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Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Author(s) -
Percy Alan K.,
Neul Jeffrey L.,
Glaze Daniel G.,
Motil Kathleen J.,
Skinner Steven A.,
Khwaja Omar,
Lee HyeSeung,
Lane Jane B.,
Barrish Judy O,
Annese Fran,
McNair Lauren,
Graham Joy,
Barnes Katherine
Publication year - 2010
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.22154
Subject(s) - rett syndrome , natural history , psychology , natural history study , medicine , pediatrics , biochemistry , chemistry , gene
Abstract Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria. Ann Neurol 2010